Canonical Allele Identifier: CA754960811

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1160361468
• MyVariant Identifiers: chr2:g.109523767_109523770del (hg19) ; chr2:g.108907311_108907314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907314_108907317del , CM000664.2:g.108907314_108907317del	GRCh38
NC_000002.11:g.109523770_109523773del , CM000664.1:g.109523770_109523773del	GRCh37
NC_000002.10:g.108890202_108890205del	NCBI36
NG_008257.1:g.87059_87062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+546_963+549del (EDAR) MANE Select	ENSP00000258443.2:n.963+546_963+549del
ENST00000258443.6:c.963+546_963+549del (EDAR)	ENSP00000258443.2:n.963+546_963+549del
ENST00000376651.1:c.1059+546_1059+549del (EDAR)	ENSP00000365839.1:n.1059+546_1059+549del
ENST00000409271.5:c.1059+546_1059+549del (EDAR)	ENSP00000386371.1:n.1059+546_1059+549del
NM_022336.3:c.963+546_963+549del (EDAR)	NP_071731.1:n.963+546_963+549del
XM_006712204.1:c.1059+546_1059+549del (EDAR)	XP_006712267.1:n.1059+546_1059+549del
XM_011510502.1:c.1110+546_1110+549del (EDAR)	XP_011508804.1:n.1110+546_1110+549del
XM_011510503.1:c.1014+546_1014+549del (EDAR)	XP_011508805.1:n.1014+546_1014+549del
XM_011510504.1:c.390+546_390+549del (EDAR)	XP_011508806.1:n.390+546_390+549del
XM_011510502.2:c.1203+546_1203+549del (EDAR)	XP_011508804.2:n.1203+546_1203+549del
XM_011510503.2:c.1107+546_1107+549del (EDAR)	XP_011508805.2:n.1107+546_1107+549del
XM_017004623.2:c.8370+134268_8370+134271del (RANBP2)	XP_016860112.1:n.8370+134268_8370+134271del
NM_022336.4:c.963+546_963+549del (EDAR) MANE Select	NP_071731.1:n.963+546_963+549del